Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44289998_44289999del , CM000683.2:g.44289998_44289999del | GRCh38 |
| NC_000021.8:g.45709881_45709882del , CM000683.1:g.45709881_45709882del | GRCh37 |
| NC_000021.7:g.44534309_44534310del | NCBI36 |
| NG_009556.1:g.9119_9120del , LRG_18:g.9119_9120del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.809_810del MANE Select | NP_000374.1:p.Glu270GlyfsTer2 |
| ENST00000291582.6:c.809_810del MANE Select | ENSP00000291582.5:p.Glu270GlyfsTer2 |
| NM_000383.3:c.809_810del | NP_000374.1:p.Glu270GlyfsTer2 |
| ENST00000291582.5:c.809_810del | ENSP00000291582.5:p.Glu270GlyfsTer2 |
| ENST00000527919.5:n.1542_1543del | |
| ENST00000530812.5:n.2559_2560del | |
| XM_011529551.1:c.809_810del | XP_011527853.1:p.Glu270GlyfsTer2 |